Variant report

Variant	esv3399613
Chromosome Location	chr5:127252795-127253059
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127251045..127254184-chr5:127417608..127420984,3	MCF-7	breast:
2	chr5:127252558..127255088-chr5:127415960..127418621,2	MCF-7	breast:
3	chr5:127252681..127255660-chr5:127418721..127420702,2	K562	blood:
4	chr5:127247758..127249668-chr5:127252486..127255400,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245937	chromatin interactions
ENSG00000064651	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375480311	chr5:127252800-127252801	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537397110	chr5:127252837-127252838	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550742859	chr5:127252855-127252856	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567557207	chr5:127252862-127252863	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs572293828	chr5:127252871-127252872	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536464594	chr5:127252877-127252878	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs76085556	chr5:127252886-127252887	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs544624330	chr5:127252895-127252896	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2409036	chr5:127252958-127252959	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534571769	chr5:127253003-127253004	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs114729196	chr5:127253056-127253057	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127251800-127252800	Enhancers	Stomach Mucosa	stomach
2	chr5:127252400-127252800	Enhancers	Colon Smooth Muscle	Colon
3	chr5:127252400-127253000	Enhancers	Fetal Intestine Large	intestine
4	chr5:127252400-127253000	Enhancers	Fetal Intestine Small	intestine
5	chr5:127252400-127253200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr5:127252400-127253200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:127252400-127253200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:127252400-127253200	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr5:127252400-127253200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:127252400-127253400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr5:127252400-127253800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:127252600-127252800	Enhancers	Ovary	ovary
13	chr5:127252600-127252800	Enhancers	Small Intestine	intestine
14	chr5:127252600-127253000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr5:127252600-127253000	Active TSS	Primary hematopoietic stem cells	blood
16	chr5:127252600-127253000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:127252600-127253000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr5:127252600-127253000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr5:127252600-127253000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr5:127252600-127253600	Enhancers	Primary B cells from peripheral blood	blood
21	chr5:127252600-127253600	Enhancers	GM12878-XiMat	blood
22	chr5:127252600-127253600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr5:127252800-127253200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:127252800-127253200	Active TSS	Ovary	ovary
25	chr5:127252800-127253200	Flanking Active TSS	Stomach Mucosa	stomach
26	chr5:127252800-127253400	Weak transcription	Small Intestine	intestine
27	chr5:127252800-127253800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:127253000-127253200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr5:127253000-127253400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:127253000-127253600	Enhancers	Primary hematopoietic stem cells	blood
31	chr5:127253000-127253600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:127253000-127253800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr5:127253000-127255200	Weak transcription	Fetal Intestine Small	intestine
34	chr5:127253000-127266200	Weak transcription	Fetal Heart	heart

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